HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38411819C>T , CM000685.2:g.38411819C>T | GRCh38 |
NC_000023.10:g.38271072C>T , CM000685.1:g.38271072C>T | GRCh37 |
NC_000023.9:g.38156016C>T | NCBI36 |
NG_008471.1:g.64337C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000039007.5:c.868-43C>T MANE Select | ENSP00000039007.4:n.868-43C>T | |
ENST00000643344.1:c.*618-43C>T | ENSP00000496606.1:n.*618-43C>T | |
ENST00000039007.4:c.868-43C>T | ENSP00000039007.4:n.868-43C>T | |
ENST00000465127.1:c.172-254302C>T | ENSP00000417050.1:n.172-254302C>T | |
NM_000531.5:c.868-43C>T | NP_000522.3:n.868-43C>T | |
XM_017029556.1:c.894C>T | XP_016885045.1:p.Ala298= | |
NM_000531.6:c.868-43C>T MANE Select | NP_000522.3:n.868-43C>T |